16 results
diagnosis pediatrics cardiology iem inbornerrors neonatology nicu obgyn syndrome table treatment 21hydroxylasedeficiency 21ohd acromegaly aflp algorithm cardiomyopathy cop cryptogenic diabetes
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... palliation • Post-Op Management ... Fallot #diagnosis #management ... #cardiology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Metformin Associated Lactic Acidosis (MALA) Pathophysiology of MALA - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... use in cellular metabolism ... also includes symptoms ... of metabolic acidosis ... Toxicology #Diagnosis #Management
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... thickness) - metabolic ... #FeedbackLoop #endocrinology ... #pathophysiology
Hypothyroid Myopathy Very common (up to 80% ) in patients with hypothyroidism Pathophysiology: • T4 deficiency leads to
hypothyroidism Pathophysiology ... mitochondrial oxidative metabolism ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms ... #endocrinology
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... free fatty acid metabolism ... Intermediate fatty acid metabolism ... postpartum): • Initial symptoms ... #pathophysiology
Euglycemic Diabetic Ketoacidosis (EuDKA) SGLT2 Inhibitors Increasing Indications Significant Adverse Drug Effects Definition of EuDKA • Metabolic acidosis with pH
Definition of EuDKA • Metabolic ... level < 200 mg/dL Pathophysiology ... EuDKA #diagnosis #management ... #endocrinology
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